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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-70548427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70548427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70548427,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012426.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "NM_012426.5",
"protein_id": "NP_036558.3",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302516.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012426.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000302516.10",
"protein_id": "ENSP00000305790.5",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012426.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302516.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Arg490Cys",
"transcript": "ENST00000918237.1",
"protein_id": "ENSP00000588296.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918237.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Cys",
"transcript": "ENST00000909659.1",
"protein_id": "ENSP00000579718.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1447,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909659.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918230.1",
"protein_id": "ENSP00000588289.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1224,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918230.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909663.1",
"protein_id": "ENSP00000579722.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909663.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918235.1",
"protein_id": "ENSP00000588294.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918235.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918238.1",
"protein_id": "ENSP00000588297.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918238.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000950012.1",
"protein_id": "ENSP00000620071.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950012.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918229.1",
"protein_id": "ENSP00000588288.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1216,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918229.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909657.1",
"protein_id": "ENSP00000579716.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909657.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918234.1",
"protein_id": "ENSP00000588293.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918234.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000950011.1",
"protein_id": "ENSP00000620070.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950011.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"transcript": "ENST00000909660.1",
"protein_id": "ENSP00000579719.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1185,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909660.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909664.1",
"protein_id": "ENSP00000579723.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909664.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909665.1",
"protein_id": "ENSP00000579724.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1176,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909665.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909662.1",
"protein_id": "ENSP00000579721.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909662.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918232.1",
"protein_id": "ENSP00000588291.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1169,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918232.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Arg378Cys",
"transcript": "ENST00000909658.1",
"protein_id": "ENSP00000579717.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1132,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909658.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Cys",
"transcript": "ENST00000909661.1",
"protein_id": "ENSP00000579720.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1117,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909661.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918231.1",
"protein_id": "ENSP00000588290.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918231.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Cys",
"transcript": "ENST00000918236.1",
"protein_id": "ENSP00000588295.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1060,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918236.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
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"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Cys",
"transcript": "ENST00000950010.1",
"protein_id": "ENSP00000620069.1",
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"aa_start": 322,
"aa_end": null,
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"cds_start": 964,
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"biotype": "protein_coding",
"feature": "ENST00000950010.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000909666.1",
"protein_id": "ENSP00000579725.1",
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"aa_start": 463,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909666.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys",
"transcript": "ENST00000918233.1",
"protein_id": "ENSP00000588292.1",
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"aa_start": 463,
"aa_end": null,
"aa_length": 950,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918233.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "n.250C>T",
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"transcript": "ENST00000567635.5",
"protein_id": "ENSP00000463253.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567635.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"hgvs_c": "n.490C>T",
"hgvs_p": null,
"transcript": "ENST00000572365.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000572365.1"
}
],
"gene_symbol": "SF3B3",
"gene_hgnc_id": 10770,
"dbsnp": "rs778558010",
"frequency_reference_population": 0.000012999666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000129997,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7608139514923096,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.4984,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.015,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012426.5",
"gene_symbol": "SF3B3",
"hgnc_id": 10770,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}